Genes that escape from X‐chromosome inactivation: Potential contributors to Klinefelter syndrome

SPEN integrates transcriptional and epigenetic control of X-inactivation

(2020) François Dossin et al.   NATURE

Widespread organ tolerance to Xist loss and X reactivation except under chronic stress in the gut

(2020) Lin Yang et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Integrated functional genomic analyses of Klinefelter and Turner syndromes reveal global network effects of altered X chromosome dosage

(2020) Xianglong Zhang et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

SeXY chromosomes and the immune system: reflections after a comparative study

(2020) Irene Meester et al.   Biology of Sex Differences

CD99 Expression in Glioblastoma Molecular Subtypes and Role in Migration and Invasion

(2019) Lais Cardoso et al.   INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES

Impact of CD123 expression, analyzed by immunohistochemistry, on clinical outcomes in patients with acute myeloid leukemia

(2019) Nana Arai et al.   INTERNATIONAL JOURNAL OF HEMATOLOGY

Human genes escaping X-inactivation revealed by single cell expression data

(2019) Kerem Wainer Katsir et al.   BMC GENOMICS

How do genes that escape from X‐chromosome inactivation contribute to Turner syndrome?

(2019) Samantha B. Peeters et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS

When the balance is broken: X‐linked gene dosage from two X chromosomes and female‐biased autoimmunity

(2019) Camille M. Syrett et al.   JOURNAL OF LEUKOCYTE BIOLOGY

Phase separation drives X-chromosome inactivation: a hypothesis

(2019) Andrea Cerase et al.   NATURE STRUCTURAL & MOLECULAR BIOLOGY

Copy number of the X ‐ linked genes TLR 7 and CD 40L influences innate and adaptive immune responses

(2019) Luis Sarmiento et al.   SCANDINAVIAN JOURNAL OF IMMUNOLOGY

Klinefelter Syndrome and Diabetes

(2019) Mark J. O’Connor et al.   Current Diabetes Reports

Interferon inducible X-linked gene CXorf21 may contribute to sexual dimorphism in Systemic Lupus Erythematosus

(2019) Christopher A. Odhams et al.   Nature Communications

Beyond sequence homology: Cellular biology limits the potential of XIST to act as a miRNA sponge

(2019) Erin A. Marshall et al.   PLoS One

The developmental origins of sex-biased expression in cardiac development

(2019) Daniel F. Deegan et al.   Biology of Sex Differences

X Inactivation and Escape: Epigenetic and Structural Features

(2019) He Fang et al.   Frontiers in Cell and Developmental Biology

Human induced pluripotent stem cells from two azoospermic patients with Klinefelter syndrome show similar X chromosome inactivation behavior to female pluripotent stem cells

(2019) Sarita Panula et al.   HUMAN REPRODUCTION

TFIIIC Binding to Alu Elements Controls Gene Expression via Chromatin Looping and Histone Acetylation

(2019) Roberto Ferrari et al.   MOLECULAR CELL

Artificial escape from XCI by DNA methylation editing of the CDKL5 gene

(2019) Julian A N M Halmai et al.   NUCLEIC ACIDS RESEARCH

X-linked intellectual disability update 2017

(2018) Giovanni Neri et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Studying X chromosome inactivation in the single-cell genomic era

(2018) Andrew Keniry et al.   BIOCHEMICAL SOCIETY TRANSACTIONS

Sex Differences in Early Embryogenesis: Inter-Chromosomal Regulation Sets the Stage for Sex-Biased Gene Networks

(2018) Nora Engel   BIOESSAYS

Mammalian X Chromosome Dosage Compensation: Perspectives From the Germ Line

(2018) Mahesh N. Sangrithi et al.   BIOESSAYS

Genetic Diversity on the Sex Chromosomes

(2018) Melissa A Wilson Sayres   Genome Biology and Evolution

Conserved microRNA targeting reveals preexisting gene dosage sensitivities that shaped amniote sex chromosome evolution

(2018) Sahin Naqvi et al.   GENOME RESEARCH

Human cis-acting elements regulating escape from X-chromosome inactivation function in mouse

(2018) Samantha B Peeters et al.   HUMAN MOLECULAR GENETICS

Klinefelter syndrome: more than hypogonadism

(2018) George A. Kanakis et al.   METABOLISM-CLINICAL AND EXPERIMENTAL

Sex differences in psychiatric disorders: what we can learn from sex chromosome aneuploidies

(2018) Tamar Green et al.   NEUROPSYCHOPHARMACOLOGY

Sex-chromosome dosage effects on gene expression in humans

(2018) Armin Raznahan et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

IL-9 receptor: Regulatory role on FLS and pannus formation

(2018) Smriti K. Raychaudhuri et al.   CYTOKINE

DNA hypermethylation and differential gene expression associated with Klinefelter syndrome

(2018) Anne Skakkebæk et al.   Scientific Reports

CD99 expression is strongly associated with clinical outcome in children with B-cell precursor acute lymphoblastic leukaemia

(2018) Dongfeng Chen et al.   BRITISH JOURNAL OF HAEMATOLOGY

Single-cell analysis identifies CRLF2 rearrangements as both early and late events in Down syndrome and non-Down syndrome acute lymphoblastic leukaemia

(2018) N. Potter et al.   LEUKEMIA

Extensive cellular heterogeneity of X inactivation revealed by single-cell allele-specific expression in human fibroblasts

(2018) Marco Garieri et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Current and Emerging Evidence for Toll-Like Receptor Activation in Sjögren’s Syndrome

(2018) Jeremy Kiripolsky et al.   Journal of Immunology Research

The nuclear matrix protein CIZ1 facilitates localization of Xist RNA to the inactive X-chromosome territory

(2017) Rebeca Ridings-Figueroa et al.   GENES & DEVELOPMENT

Klinefelter syndrome comorbidities linked to increased X chromosome gene dosage and altered protein interactome activity

(2017) Kirstine Belling et al.   HUMAN MOLECULAR GENETICS

hnRNPK Recruits PCGF3/5-PRC1 to the Xist RNA B-Repeat to Establish Polycomb-Mediated Chromosomal Silencing

(2017) Greta Pintacuda et al.   MOLECULAR CELL

Landscape of X chromosome inactivation across human tissues

(2017) Taru Tukiainen et al.   NATURE

Xist-dependent imprinted X inactivation and the early developmental consequences of its failure

(2017) Maud Borensztein et al.   NATURE STRUCTURAL & MOLECULAR BIOLOGY

Improving clinical diagnosis in SHOX deficiency: the importance of growth velocity

(2017) Giulia Genoni et al.   PEDIATRIC RESEARCH

When the Lyon(ized chromosome) roars: ongoing expression from an inactive X chromosome

(2017) Laura Carrel et al.   PHILOSOPHICAL TRANSACTIONS OF THE ROYAL SOCIETY B-BIOLOGICAL SCIENCES

A mixed modality approach towards Xi reactivation for Rett syndrome and other X-linked disorders

(2017) Lieselot L. G. Carrette et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Allele-specific non-CG DNA methylation marks domains of active chromatin in female mouse brain

(2017) Christopher L. Keown et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Genetic and epigenetic features direct differential efficiency of Xist-mediated silencing at X-chromosomal and autosomal locations

(2017) Agnese Loda et al.   Nature Communications

Xist-dependent imprinted X inactivation and the early developmental consequences of its failure

(2017) Maud Borensztein et al.   NATURE STRUCTURAL & MOLECULAR BIOLOGY

Loss of Xist RNA from the inactive X during B cell development is restored in a dynamic YY1-dependent two-step process in activated B cells

(2017) Camille M. Syrett et al.   PLoS Genetics

Single-Cell RNA-Seq Reveals Lineage and X Chromosome Dynamics in Human Preimplantation Embryos

(2016) Sophie Petropoulos et al.   CELL

Anatomical and clinical aspects of Klinefelter's syndrome

(2016) Rebecca J. Bird et al.   CLINICAL ANATOMY

The Eutherian Pseudoautosomal Region

(2016) Terje Raudsepp et al.   CYTOGENETIC AND GENOME RESEARCH

Live imaging of X chromosome reactivation dynamics in early mouse development can discriminate naïve from primed pluripotent stem cells

(2016) Shin Kobayashi et al.   DEVELOPMENT

Control of Chromosomal Localization of Xist by hnRNP U Family Molecules

(2016) Takehisa Sakaguchi et al.   DEVELOPMENTAL CELL

Tumor-suppressor genes that escape from X-inactivation contribute to cancer sex bias

(2016) Andrew Dunford et al.   NATURE GENETICS

Evaluation of X Chromosome Inactivation with Respect to HLA Genetic Susceptibility in Rheumatoid Arthritis and Systemic Sclerosis

(2016) Sami B. Kanaan et al.   PLoS One

The protein phosphatase 2A regulatory subunit PR70 is a gonosomal melanoma tumor suppressor gene

(2016) L. C. L. van Kempen et al.   Science Translational Medicine

X inactivation and reactivation in X-linked diseases

(2016) Marcella Vacca et al.   SEMINARS IN CELL & DEVELOPMENTAL BIOLOGY

Dosage compensation of the sex chromosomes and autosomes

(2016) Christine M. Disteche   SEMINARS IN CELL & DEVELOPMENTAL BIOLOGY

Escape Artists of the X Chromosome

(2016) Bradley P. Balaton et al.   TRENDS IN GENETICS

Spatial sexual dimorphism of X and Y homolog gene expression in the human central nervous system during early male development

(2016) Martin M. Johansson et al.   Biology of Sex Differences

YY1 binding association with sex-biased transcription revealed through X-linked transcript levels and allelic binding analyses

(2016) Chih-yu Chen et al.   Scientific Reports

Systematic Discovery of Xist RNA Binding Proteins

(2015) Ci Chu et al.   CELL

Gene Expression Patterns in Relation to the Clinical Phenotype in Klinefelter Syndrome

(2015) Michael Zitzmann et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

The Xist lncRNA interacts directly with SHARP to silence transcription through HDAC3

(2015) Colleen A. McHugh et al.   NATURE

Human body epigenome maps reveal noncanonical DNA methylation variation

(2015) Matthew D. Schultz et al.   NATURE

Evolution of vertebrate sex chromosomes and dosage compensation

(2015) Jennifer A. Marshall Graves   NATURE REVIEWS GENETICS

A comprehensive Xist interactome reveals cohesin repulsion and an RNA-directed chromosome conformation

(2015) A. Minajigi et al.   SCIENCE

Switching between Epigenetic States at Pericentromeric Heterochromatin

(2015) Jérôme Déjardin   TRENDS IN GENETICS

X chromosome inactivation and active X upregulation in therian mammals: facts, questions, and hypotheses

(2015) R. A. Veitia et al.   Journal of Molecular Cell Biology

Escape from X Inactivation Varies in Mouse Tissues

(2015) Joel B. Berletch et al.   PLoS Genetics

DNA methylation signature in peripheral blood reveals distinct characteristics of human X chromosome numerical aberrations

(2015) Amit Sharma et al.   Clinical Epigenetics

Derivation of consensus inactivation status for X-linked genes from genome-wide studies

(2015) Bradley P. Balaton et al.   Biology of Sex Differences

Individuality and Variation of Personal Regulomes in Primary Human T Cells

(2015) Kun Qu et al.   Cell Systems

Associations between Klinefelter’s syndrome and autoimmune diseases: English national record linkage studies

(2014) Olena O. Seminog et al.   AUTOIMMUNITY

Landscape of DNA methylation on the X chromosome reflects CpG density, functional chromatin state and X-chromosome inactivation

(2014) Allison M. Cotton et al.   HUMAN MOLECULAR GENETICS

Mammalian Y chromosomes retain widely expressed dosage-sensitive regulators

(2014) Daniel W. Bellott et al.   NATURE

Cellular Resolution Maps of X Chromosome Inactivation: Implications for Neural Development, Function, and Disease

(2014) Hao Wu et al.   NEURON

Sex-specific association of a common variant of the XG gene with autism spectrum disorders

(2013) Shun-Chiao Chang et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART B-NEUROPSYCHIATRIC GENETICS

The protocadherin 11X/Y (PCDH11X/Y) gene pair as determinant of cerebral asymmetry in modernHomo sapiens

(2013) Thomas H. Priddle et al.   Annals of the New York Academy of Sciences

Random replication of the inactive X chromosome

(2013) A. Koren et al.   GENOME RESEARCH

DNA methylation profiling in X;autosome translocations supports a role for L1 repeats in the spread of X chromosome inactivation

(2013) Neeta Bala Tannan et al.   HUMAN MOLECULAR GENETICS

Spread of X-chromosome inactivation into autosomal sequences: role for DNA elements, chromatin features and chromosomal domains

(2013) Allison M. Cotton et al.   HUMAN MOLECULAR GENETICS

Cellular interference in craniofrontonasal syndrome: males mosaic for mutations in the X-linked EFNB1 gene are more severely affected than true hemizygotes

(2013) Stephen R.F. Twigg et al.   HUMAN MOLECULAR GENETICS

Y-chromosome microdeletions are not associated with SHOX haploinsufficiency

(2013) C. Chianese et al.   HUMAN REPRODUCTION

Global Epigenomic Reconfiguration During Mammalian Brain Development

(2013) R. Lister et al.   SCIENCE

Deletion of an X-Inactivation Boundary Disrupts Adjacent Gene Silencing

(2013) Lindsay M. Horvath et al.   PLoS Genetics

Analysis of expressed SNPs identifies variable extents of expression from the human inactive X chromosome

(2013) Allison M Cotton et al.   GENOME BIOLOGY

Site-Specific Silencing of Regulatory Elements as a Mechanism of X Inactivation

(2012) J. Mauro Calabrese et al.   CELL

The genetic origin of Klinefelter syndrome and its effect on spermatogenesis

(2012) Merel Maiburg et al.   FERTILITY AND STERILITY

Methylation-Specific PCR Allows for Fast Diagnosis of X Chromosome Disomy and Reveals Skewed Inactivation of the X Chromosome in Men With Klinefelter Syndrome

(2012) A. Mehta et al.   JOURNAL OF ANDROLOGY

A cross-species comparison of escape from X inactivation in Eutheria: implications for evolution of X chromosome inactivation

(2011) Shafagh Al Nadaf et al.   CHROMOSOMA

Allele-specific distribution of RNA polymerase II on female X chromosomes

(2011) Katerina S. Kucera et al.   HUMAN MOLECULAR GENETICS

Rheumatic diseases and Klinefelter's syndrome

(2010) J. Rovenský et al.   Annals of the New York Academy of Sciences

The Parent-of-Origin of the Extra X Chromosome May Differentially Affect Psychopathology in Klinefelter Syndrome

(2010) Hilgo Bruining et al.   BIOLOGICAL PSYCHIATRY

The price of silence

(2009) Nathalie C. Lambert   ARTHRITIS AND RHEUMATISM

A generalized model of gene dosage and dominant negative effects in macromolecular complexes

(2009) Reiner A. Veitia   FASEB JOURNAL

A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation

(2009) Patrick S Tarpey et al.   NATURE GENETICS

What does the “four core genotypes” mouse model tell us about sex differences in the brain and other tissues?

(2008) Arthur P. Arnold et al.   FRONTIERS IN NEUROENDOCRINOLOGY

Escape from X chromosome inactivation is an intrinsic property of the Jarid1c locus

(2008) N. Li et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA